A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620873



Internal ID15473538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170124664..170199561hg38UCSC Ensembl
Outerchr6:170439888..170514785hg19UCSC Ensembl
Outerchr6:170281813..170356710hg18UCSC Ensembl
Outerchr6:170357520..170432417hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385089
hg195089
hg185089
hg175089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509177
Supporting Variants
SamplesNA15510
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv620873
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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